目的:分析BRAF V⁶⁰⁰E和RAS基因突变在甲状腺乳头状癌(PTC)中的发生情况,研究BRAF V⁶⁰⁰E和RAS基因突变与PTC各临床病理特征及预后的相关性。方法:通过cBioPortal网站下载整理癌症基因组图谱(The Cancer Genome Atlas,TCGA)数据库中PTC的相关信息,选取资料完善的402例PTC样本的基因突变和临床信息进行分析。先单因素分析BRAF V⁶⁰⁰E和RAS基因突变与临床病理参数的相关性,再对其进行多因素Logistic回归分析。结果:在402例PTC中,BRAFV⁶⁰⁰E的突变率为48.5%(195/402),RAS基因突变率为10.2%(41/402)。单因素分析显示BRAF V⁶⁰⁰E突变与患者的年龄、性别无关(P>0.05),与有无淋巴结转移、有无腺外侵犯、分期、复发进展和病理亚型有关(P<0.05)；RAS基因突变与患者年龄、性别、分期、复发进展无关(P>0.05),与有无淋巴结转移、有无腺外侵犯和病理亚型有关(P<0.05)。Logistics回归分析显示BRAFV⁶⁰⁰E基因突变与有无腺外侵犯和PTC的病理亚型有关(P<0.05),RAS基因突变与有无淋巴结转移、有无腺外侵犯和PTC病理亚型有关(P<0.05)。结论:在PTC中,BRAFV⁶⁰⁰E基因突变率显著高于RAS基因突变率；BRAF V⁶⁰⁰E和RAS基因突变可作为PTC患者预后的预测因素。

Objective: To investigate the occurrence of BRAFV⁶⁰⁰E and RAS mutations in thyroid papillary carcinoma (PTC) and to study their correlation with clinicopathological features of PTC. Methods: Relevant information of PTC was downloaded and organized from The Cancer Genome Atlas (TCGA) via cBioPortal, and then the gene mutation and clinical information of 402 PTC samples were analyzed. The correlation of BRAFV⁶⁰⁰E and RAS mutations with clinicopathological features and prognosis of PTC were subjected to univariate analysis. Then, binary logistic multivariate analysis was used to analyze the factors screened above. Results: BRAFV⁶⁰⁰E mutation rate was 48.5% (195/402) and RAS mutation rate was 10.2% (41/402) in 402 cases of PTC. Univariate analysis showed that BRAFV⁶⁰⁰E mutation had nothing to do with age and sex of patients (P>0.05). There was a significant correlation among BRAFV⁶⁰⁰E mutation and lymph node metastasis, extrathyroidal invasion, staging, recurrence, progression and pathological subtypes in PTC (P<0.05). There was no significant correlation among RAS and age, sex, staging, recurrence, progression (P>0.05). There was a significant correlation among RAS and lymph node metastasis, extrathyroidal invasion and pathological subtypes in PTC (P<0.05). Multivariate logistic regression analysis indicated that there was a significant correlation among BRAFV⁶⁰⁰E mutation and extrathyroidal invasion, pathological subtypes in PTC (P<0.05). There was a significant correlation among RAS and lymph node metastasis, extrathyroidal invasion and pathological subtypes in PTC (P<0.05). Conclusion: The mutation rate of BRAFV⁶⁰⁰E is significantly higher than that of RAS in PTC. Mutations in BRAFV⁶⁰⁰E and RAS can be used as predictors of prognosis in PTC.

R736.1

国家自然科学基金项目 (81302577)